A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669384



Internal ID9935489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40048595..40049102hg38UCSC Ensembl
chr7:40088194..40088701hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5811080, essv5846992, essv6556916, essv6189738, essv5912496, essv5433067, essv5757025, essv5399535, essv6109697, essv6560332, essv6271332, essv5421123, essv5488173, essv6132105, essv5505360, essv6163332, essv5413538, essv5766736, essv6285496
SamplesNA19359, NA18486, NA19377, NA19374, NA19373, NA19382, NA18923, NA19384, NA19383, NA19462, NA18907, NA18523, NA19434, NA19428, NA19311, NA19360, NA19398, NA19102, NA18505
Known GenesCDK13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669384
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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